- rab-33 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in autophagosome assembly. Predicted to be located in Golgi apparatus and endosome. Human ortholog(s) of this gene implicated in Smith-McCort dysplasia 2. Is an ortholog of human RAB33B (RAB33B, member RAS oncogene family).
- MTOR-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH genetic disease; Smith-Kingsmore Syndrome; INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid
- Slc47a1 [Search on AGR]
Homo sapiens This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
- Faf2 [Search on AGR]
Homo sapiens The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]
- Cotl1 [Search on AGR]
Homo sapiens This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
- Dhrs9 [Search on AGR]
Mus musculus PHENOTYPE: Mice homozygous for a null allele exhibit reduced LTB4 ad RvD1 dehydrogenase activities in the skin, lung, and tracheal microsomes. [provided by MGI curators]
- Rnf112 [Search on AGR]
Homo sapiens This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
- Nt5m [Search on AGR]
Homo sapiens This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]